Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

Bröer, Stefan

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. [electronic resource] - The Journal of clinical investigation Dec 2008 - 3881-92 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0021-9738

10.1172/JCI36625 doi


Alleles
Amino Acid Transport Disorders, Inborn--genetics
Amino Acid Transport Systems, Neutral--genetics
Family
Female
Glycine Plasma Membrane Transport Proteins--genetics
Humans
Male
Mutation
Pedigree
Penetrance